Erika Kvikstad


AuthID: R-00H-NTA

Publications Requiring Validation

1
TITLE: Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases  Full Text
AUTHORS: Pagnamenta, Alistair T.; Camps, Carme; Giacopuzzi, Edoardo; Taylor, John M.; Hashim, Mona; Calpena, Eduardo; Kaisaki, Pamela J.; Hashimoto, Akiko; Yu, Jing; Sanders, Edward; Schwessinger, Ron; Hughes, Jim R.; Lunter, Gerton; Dreau, Helene; Ferla, Matteo; Lange, Lukas; Kesim, Yesim; Ragoussis, Vassilis; Vavoulis, Dimitrios V.; Allroggen, Holger; Ansorge, Olaf; Babbs, Christian; Banka, Siddharth; Banos Pinero, Benito; Beeson, David; Ben Ami, Tal; Bennett, David L.; Bento, Celeste; Blair, Edward; Brasch Andersen, Charlotte; Bull, Katherine R.; Cario, Holger; Cilliers, Deirdre; Conti, Valerio; Davies, E. Graham; Dhalla, Fatima; Dacal, Beatriz Diez; Dong, Yin; Dunford, James E.; Guerrini, Renzo; Harris, Adrian L.; Hartley, Jane; Hollander, Georg; Javaid, Kassim; Kane, Maureen; Kelly, Deirdre; Kelly, Dominic; Knight, Samantha J. L.; Kreins, Alexandra Y.; Kvikstad, Erika M.; Langman, Craig B.; Lester, Tracy; Lines, Kate E.; Lord, Simon R.; Lu, Xin; Mansour, Sahar; Manzur, Adnan; Maroofian, Reza; Marsden, Brian; Mason, Joanne; McGowan, Simon J.; Mei, Davide; Mlcochova, Hana; Murakami, Yoshiko; Nemeth, Andrea H.; Okoli, Steven; Ormondroyd, Elizabeth; Ousager, Lilian Bomme; Palace, Jacqueline; Patel, Smita Y.; Pentony, Melissa M.; Pugh, Chris; Rad, Aboulfazl; Ramesh, Archana; Riva, Simone G.; Roberts, Irene; Roy, Noemi; Salminen, Outi; Schilling, Kyleen D.; Scott, Caroline; Sen, Arjune; Smith, Conrad; Stevenson, Mark; Thakker, Rajesh V.; Twigg, Stephen R. F.; Uhlig, Holm H.; van Wijk, Richard; Vona, Barbara; Wall, Steven; Wang, Jing; Watkins, Hugh; Zak, Jaroslav; Schuh, Anna H.; Kini, Usha; Wilkie, Andrew O. M.; Popitsch, Niko; Taylor, Jenny C.; ...More
PUBLISHED: 2023, SOURCE: GENOME MEDICINE, VOLUME: 15, ISSUE: 1
INDEXED IN: Scopus WOS
2
TITLE: Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease
AUTHORS: Marion Lenglet; Florence Robriquet; Klaus Schwarz; Carme Camps; Anne Couturier; David Hoogewijs; Alexandre Buffet; Samantha J L Knight; Sophie Gad; Sophie Couve; Franck Chesnel; Mathilde Pacault; Pierre Lindenbaum; Sylvie Job; Solenne Dumont; Thomas Besnard; Marine Cornec; Helene Dreau; Melissa Pentony; Erika Kvikstad; Sophie Deveaux; Nelly Burnichon; Sophie Ferlicot; Mathias Vilaine; Jean Michael Mazzella; Fabrice Airaud; Celine Garrec; Laurence Heidet; Sabine Irtan; Elpis Mantadakis; Karim Bouchireb; Klaus Michael Debatin; Richard Redon; Stephane Bezieau; Brigitte Bressac de Paillerets; Bin Tean Teh; Francois Girodon; Maria Luigia Randi; Maria Caterina Putti; Vincent Bours; Richard VanWijk; Joachim R Goethert; Antonis Kattamis; Nicolas Janin; Celeste Bento; Jenny C Taylor; Yannick Arlot Bonnemains; Stephane Richard; Anne Paule Gimenez Roqueplo; Holger Cario; Betty Gardie; ...More
PUBLISHED: 2018, SOURCE: BLOOD, VOLUME: 132, ISSUE: 5
INDEXED IN: Scopus WOS

footer slogan

Useful Links

Get Help

© 2024 CRACS & Inesc TEC - All Rights Reserved Privacy Policy | Terms of Service